Neuroblastoma presenting as acute monoblastic leukemia

Purpose: We report a 5-year-old boy with stage 4 neuroblastoma initially diagnosed as having acute monoblastic leukemia (FAB M5A, AMoL), based on bone marrow morphology, histochemistry, immunocytochemistry, immunophenotyping, and cytogenetics, all consistent with AMoL. The patient also had circulating blasts at diagnosis. After failing initial therapy for AMoL and because of concerns about residual blasts with a clumped appearance in the bone marrow, urinary homovanillic acid (HVA) and vanillylmandelic acid (VMA) and N-myc amplification in tumor cells were evaluated and found to be positive, resulting in the diagnosis of neuroblastoma. Abdominal computerized tomography showed a left adrenal mass. A review of 10 reported cases of neuroblastoma with leukemic features showed that seven of them were misdiagnosed as having leukemia, and in six of the seven, the diagnosis of neuroblastoma was made postmortem. Conclusion: Neuroblastoma may be confused with acute leukemia, even with the use of modern techniques.